Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in theVPS33B gene

2006 ◽  
Vol 28 (2) ◽  
pp. 233-234 ◽  
Author(s):  
M. T. V. Sanseverino ◽  
C. F. M. de Souza ◽  
P. Gissen ◽  
A. O. Sordi ◽  
J. A. Magalhães ◽  
...  
Keyword(s):  
Renal Dysfunction ◽  
Nuchal Translucency ◽  
Specific Mutation ◽  
Arc Syndrome ◽  
Increased Nuchal Translucency

scholarly journals Fetal exome sequencing for isolated increased nuchal translucency: Should we be doing it?

2021 ◽  
Author(s):  
Rhiannon Mellis ◽  
Ruth Y Eberhardt ◽  
Susan J Hamilton ◽  
Dominic J McMullan ◽  
Mark D Kilby ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

scholarly journals Osteogenesis imperfecta associated with increased nuchal translucency as a first ultrasound sign: report of another case

2003 ◽  
Vol 21 (2) ◽  
pp. 200-202 ◽  
Author(s):  
E. Viora ◽  
A. Sciarrone ◽  
S. Bastonero ◽  
G. Errante ◽  
G. Botta ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Nuchal Translucency ◽  
Ultrasound Sign ◽  
Increased Nuchal Translucency

De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency

2006 ◽  
Vol 26 (3) ◽  
pp. 206-213 ◽  
Author(s):  
Sophie Brisset ◽  
Serdar Kasakyan ◽  
Aurore Coulomb L'Herminé ◽  
Valérie Mairovitz ◽  
Evelyne Gautier ◽  
...  
Keyword(s):  
De Novo ◽  
Nuchal Translucency ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Increased Nuchal Translucency

scholarly journals Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect

2015 ◽  
Vol 35 (13) ◽  
pp. 1278-1286 ◽  
Author(s):  
Nicole B. Burger ◽  
Mireille N. Bekker ◽  
Evelien Kok ◽  
Christianne J. M. De Groot ◽  
James F. Martin ◽  
...  
Keyword(s):  
Nuchal Translucency ◽  
Cardiac Defect ◽  
Lymphatic Development ◽  
Increased Nuchal Translucency
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